82 research outputs found

    Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

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    Item does not contain fulltextBACKGROUND: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS: We applied a Mendelian randomisation approach to examine height/BMI with ovarian cancer risk using the Consortium of Investigators for the Modifiers of BRCA1/2 (CIMBA) data set, comprising 14,676 BRCA1 and 7912 BRCA2 mutation carriers, with 2923 ovarian cancer cases. We created a height genetic score (height-GS) using 586 height-associated variants and a BMI genetic score (BMI-GS) using 93 BMI-associated variants. Associations were assessed using weighted Cox models. RESULTS: Observed height was not associated with ovarian cancer risk (hazard ratio [HR]: 1.07 per 10-cm increase in height, 95% confidence interval [CI]: 0.94-1.23). Height-GS showed similar results (HR = 1.02, 95% CI: 0.85-1.23). Higher BMI was significantly associated with increased risk in premenopausal women with HR = 1.25 (95% CI: 1.06-1.48) and HR = 1.59 (95% CI: 1.08-2.33) per 5-kg/m(2) increase in observed and genetically determined BMI, respectively. No association was found for postmenopausal women. Interaction between menopausal status and BMI was significant (Pinteraction < 0.05). CONCLUSION: Our observation of a positive association between BMI and ovarian cancer risk in premenopausal BRCA1/2 mutation carriers is consistent with findings in the general population

    A self-help version of the New Forest Parenting Programme for parents of children with attention deficit hyperactivity disorder:a qualitative study of parent views and acceptability

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    Background Although parent interventions are recommended as a frontline treatment approach for children with attention deficit hyperactivity disorder (ADHD), a number of practical and situational barriers can impact accessibility and availability. Self-help parent interventions offer a potential alternative to therapist-led interventions when barriers prevent access to face-to-face treatment. This qualitative study aims to explore participant views and acceptability of self-help parent interventions. Method Semi-structured interviews were conducted with parents/carers of 12 children (age 6–10 years) with ADHD who received the self-help version of the New Forest Parenting Programme (NFPP-SH) as part of a randomised controlled trial. Thematic analysis (as proposed by Braun and Clarke) was used to analyse the data. Results Overall, participants had favourable views of the self-help intervention but also experienced some barriers to treatment adherence. Six key themes were identified in parent interviews related to parental desire to learn more; acquisition of new skills; the flexibility of the intervention; self-help intervention vs. traditional therapist-led formats; barriers to engagement in the home environment; and need for earlier access to help. Conclusions NFPP-SH was an acceptable intervention for parents. However, some parents may need additional support to overcome barriers associated with completing an intervention at home. Implications for healthcare providers and researchers developing self-help parent interventions for ADHD and child behaviour are discussed

    Análise de associação quanto à produtividade e seus caracteres componentes em linhagens e cultivares de arroz de terras altas

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    O objetivo deste trabalho foi identificar, por meio da análise de mapeamento associativo, os marcadores moleculares relacionados à produtividade do arroz de terras altas e aos seus caracteres componentes. Foram usadas 113 linhagens e cultivares de arroz de terras altas, da Coleção Nuclear de Arroz da Embrapa, com reduzido vínculo genético entre si. Os seguintes caracteres componentes da produtividade foram avaliados: número de panículas por metro, número de grãos por panícula e peso de 100 grãos. Dos 115 marcadores utilizados, 25 (21,7%) associaram-se significativamente a um ou mais caracteres. Entre os 29 SSR ("simple sequence repeats") colocalizados em QTL ("quantitative trait loci") de produtividade de arroz, 12 foram associados aos caracteres avaliados e considerados como candidatos para uso na seleção assistida por marcadores. Os marcadores NP914540, Q6ZGD1 e Q69JE3, associados ao número de grãos por panícula, ainda não foram anotados no arroz e podem constituir o ponto de partida para estudos de genômica funcional. Entre os marcadores derivados de sequências transcritas, NP914526 e NP914533 destacam-se por pertencer a rotas metabólicas relacionadas ao aumento do potencial produtivo de arroz

    Mouse Chromosome 3

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    Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46995/1/335_2004_Article_BF00648421.pd

    Schwere Orthostase bei Katecholaminmangel

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